A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4150



Internal ID15192191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42906793..42940839hg38UCSC Ensembl
Outerchr1:43372464..43406510hg19UCSC Ensembl
Outerchr1:43145051..43179097hg18UCSC Ensembl
Outerchr1:43041557..43075603hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385701
hg195701
hg185701
hg175701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv699
Supporting Variants
SamplesNA12878
Known GenesSLC2A1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4150
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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